Canonical Allele Identifier: CA686250516
Gene: AEBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1247351469
gnomAD v3: 12-19648609-G-A
gnomAD v4: 12-19648609-G-A
MyVariant Identifiers: chr12:g.19801543G>A (hg19) chr12:g.19648609G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.19648609G>A , CM000674.2:g.19648609G>A GRCh38
NC_000012.11:g.19801543G>A , CM000674.1:g.19801543G>A GRCh37
NC_000012.10:g.19692810G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000512223.6:c.339-72024G>A ENSP00000445587.1:n.339-72024G>A
XR_242921.2:n.253-1787G>A
XR_931408.1:n.77-1787G>A
XR_001749034.2:n.472-1787G>A
XR_001749035.1:n.526-1787G>A
XR_001749036.1:n.526-1089G>A
XR_001749037.1:n.276-1787G>A
XR_002957408.1:n.134-1787G>A
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